Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1365818420
rs1365818420
SMOC1
1 1.000 0.040 14 70010946 missense variant G/A snv 0.800 1.000 4 2011 2013
dbSNP: rs370866589
rs370866589
SMOC1
7 0.851 0.120 14 69952261 stop gained C/G;T snv 4.0E-06; 1.6E-05 0.710 1.000 1 2019 2019
dbSNP: rs776638586
rs776638586
SMOC1
1 1.000 0.040 14 70010921 missense variant C/T snv 1.2E-05 0.700 1.000 4 2011 2013
dbSNP: rs1566709825
rs1566709825
SMOC1
1 1.000 0.040 14 70010901 missense variant G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs751356341
rs751356341
SMOC1
1 1.000 0.040 14 69953533 splice donor variant G/A;T snv 4.0E-06 0.700 1.000 1 2011 2011
dbSNP: rs1114167455
rs1114167455
SMOC1
1 1.000 0.040 14 69953521 missense variant T/C snv 0.700 0
dbSNP: rs1326644602
rs1326644602
SMOC1
1 1.000 0.040 14 70023379 missense variant G/A snv 4.0E-06 0.700 0
dbSNP: rs1566709754
rs1566709754
SMOC1
1 1.000 0.040 14 70010798 stop gained G/T snv 0.700 0
dbSNP: rs376672665
rs376672665
SMOC1
1 1.000 0.040 14 70010807 stop gained C/A;T snv 6.8E-05 0.700 0
dbSNP: rs863223317
rs863223317
SMOC1
1 1.000 0.040 14 69994481 splice donor variant G/A snv 0.700 0